p.Ala12 Ala14del variant of ARID1B (Q8NFD5)
p.Ala12 Ala14del in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala12 Ala14del variant details
- rs576322233
- gnomAD 6-156777695-AGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available